Found 9 datasets matching "missense-mutation".
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Background Tyrosinemia type I, the most severe disease of the tyrosine catabolic pathway is caused by a deficiency in fumarylacetoacetate hydrolase (FAH). A patient showing few of the...
Search relevance: 222.05 | Views last month: 0 -
Background R122, the primary autolysis site of the human cationic trypsinogen (PRSS1), constitutes an important "self-destruct" or "fail-safe" defensive mechanism against premature...
Search relevance: 70.71 | Views last month: 0 -
We have identified four different mutations causing leukocyte adhesion deficiency (LAD) in the ITGB2 gene of patients from a highly inbred population. Two were novel single-bp deletions (1497delG...
Search relevance: 68.58 | Views last month: 0 -
Background A non-pathogenic species of coryneform bacteria, Corynebacterium glutamicum, was originally isolated as an L-glutamate producing bacterium and is now used for fermentative...
Search relevance: 66.52 | Views last month: 0 -
Background The E-cadherin-catenin complex plays a crucial role in epithelial cell-cell adhesion and in the maintenance of tissue architecture. Perturbation in the expression or function...
Search relevance: 66.28 | Views last month: 1 -
In order to explore the possible role of E-cadherin in familial cancer, 19 familial breast cancer patients, whose tumours demonstrated loss of heterozygosity (LOH) at the E-cadherin locus, were...
Search relevance: 62.88 | Views last month: 1 -
Background We have constructed Bayesian prior-based, amino-acid sequence profiles for the complete yeast mitochondrial proteome and used them to develop methods for identifying and...
Search relevance: 62.38 | Views last month: 0 -
Listeria monocytogenes contamination of fresh-cut produce poses a threat to consumers due to its high mortality rate. Because it is widespread in the environment, as well as able to grow and...
Search relevance: 59.52 | Views last month: 0 -
Background Breast cancer is the most common female malignancy and a major cause of death in middle-aged women. So far, germline mutations in the BRCA1 and BRCA2 genes in patients with...
Search relevance: 56.66 | Views last month: 2
